Mutagenetix > Incidental Mutation

Incidental Mutation 'R4239:Gm6871'

321254

Institutional Source

Beutler Lab

Gene Symbol

Gm6871

Ensembl Gene

ENSMUSG00000090744

Gene Name

predicted gene 6871

Synonyms

MMRRC Submission

041056-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R4239 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

41193704-41210253 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41195204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 511 (T511K)

Ref Sequence

ENSEMBL: ENSMUSP00000105843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073410] [ENSMUST00000110214] [ENSMUST00000164677]

AlphaFold

L7N248

Predicted Effect

probably benign
Transcript: ENSMUST00000073410
AA Change: T404K

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073117
Gene: ENSMUSG00000090744
AA Change: T404K

Domain	Start	End	E-Value	Type
KRAB	4	64	1.19e-16	SMART
ZnF_C2H2	131	153	3.44e-4	SMART
ZnF_C2H2	159	181	5.99e-4	SMART
ZnF_C2H2	187	209	3.34e-2	SMART
ZnF_C2H2	215	237	5.99e-4	SMART
ZnF_C2H2	243	265	1.28e-3	SMART
ZnF_C2H2	271	293	3.69e-4	SMART
ZnF_C2H2	299	321	1.36e-2	SMART
ZnF_C2H2	327	349	3.21e-4	SMART
ZnF_C2H2	355	377	2.61e-4	SMART
ZnF_C2H2	383	405	3.16e-3	SMART
ZnF_C2H2	411	433	5.14e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110214
AA Change: T511K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105843
Gene: ENSMUSG00000090744
AA Change: T511K

Domain	Start	End	E-Value	Type
KRAB	111	171	1.19e-16	SMART
ZnF_C2H2	238	260	3.44e-4	SMART
ZnF_C2H2	266	288	5.99e-4	SMART
ZnF_C2H2	294	316	3.34e-2	SMART
ZnF_C2H2	322	344	5.99e-4	SMART
ZnF_C2H2	350	372	1.28e-3	SMART
ZnF_C2H2	378	400	3.69e-4	SMART
ZnF_C2H2	406	428	1.36e-2	SMART
ZnF_C2H2	434	456	3.21e-4	SMART
ZnF_C2H2	462	484	2.61e-4	SMART
ZnF_C2H2	490	512	3.16e-3	SMART
ZnF_C2H2	518	540	5.14e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164677

SMART Domains

Protein: ENSMUSP00000131240
Gene: ENSMUSG00000090744

Domain	Start	End	E-Value	Type
internal_repeat_1	21	67	6.62e-7	PROSPERO
internal_repeat_1	105	151	6.62e-7	PROSPERO

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (55/58)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,888,126 (GRCm39)	D397G	probably benign	Het
Alpk2	T	A	18: 65,433,212 (GRCm39)	I1765F	probably damaging	Het
Ano5	T	A	7: 51,237,414 (GRCm39)	I696N	probably damaging	Het
Areg	A	T	5: 91,291,375 (GRCm39)	N106I	probably damaging	Het
Atad2b	A	G	12: 5,035,710 (GRCm39)	N759D	probably benign	Het
B4galnt4	T	C	7: 140,641,239 (GRCm39)	L18P	probably damaging	Het
Boc	T	C	16: 44,312,247 (GRCm39)	D605G	probably damaging	Het
Cfap46	G	T	7: 139,246,203 (GRCm39)	Q387K	possibly damaging	Het
Cfap74	C	A	4: 155,547,529 (GRCm39)	H1238Q	probably benign	Het
Clip2	A	G	5: 134,564,051 (GRCm39)		probably benign	Het
Cog4	T	C	8: 111,585,244 (GRCm39)	I303T	probably damaging	Het
Col18a1	C	T	10: 76,932,001 (GRCm39)	V363I	unknown	Het
Crip3	A	T	17: 46,742,156 (GRCm39)	K184*	probably null	Het
Ddi1	A	G	9: 6,265,799 (GRCm39)	M190T	probably benign	Het
Dnah3	G	A	7: 119,628,248 (GRCm39)	Q1459*	probably null	Het
Dpp8	A	G	9: 64,962,205 (GRCm39)	D415G	probably benign	Het
Ehhadh	T	G	16: 21,581,438 (GRCm39)	D518A	probably damaging	Het
Erbb2	A	G	11: 98,318,869 (GRCm39)	K549R	probably benign	Het
Fbxl3	G	A	14: 103,326,854 (GRCm39)	S176L	probably damaging	Het
Gm1979	T	C	5: 26,206,119 (GRCm39)	T154A	probably benign	Het
Gtf2h1	C	T	7: 46,454,489 (GRCm39)	A157V	probably benign	Het
Hexb	T	C	13: 97,313,259 (GRCm39)		probably benign	Het
Ifi214	A	T	1: 173,352,509 (GRCm39)	S307T	possibly damaging	Het
Ighv3-4	A	T	12: 114,217,533 (GRCm39)	D19E	probably benign	Het
Klk6	A	G	7: 43,478,597 (GRCm39)	H168R	probably benign	Het
Large2	A	G	2: 92,196,950 (GRCm39)		probably benign	Het
Myo5c	T	C	9: 75,191,224 (GRCm39)	I1086T	probably benign	Het
Nes	C	A	3: 87,886,666 (GRCm39)	P1598T	probably damaging	Het
Or13a25	A	G	7: 140,247,496 (GRCm39)	N99D	probably benign	Het
Or51f1d	T	C	7: 102,701,003 (GRCm39)	V166A	probably benign	Het
Or5g25	T	A	2: 85,478,647 (GRCm39)	Q6L	probably damaging	Het
Otud7a	A	G	7: 63,300,702 (GRCm39)	D47G	probably damaging	Het
Phactr1	T	A	13: 43,248,363 (GRCm39)	N437K	possibly damaging	Het
Plcb1	A	T	2: 135,186,078 (GRCm39)	I682F	probably damaging	Het
Plcz1	T	A	6: 139,986,344 (GRCm39)		probably null	Het
Prl7a1	T	A	13: 27,821,549 (GRCm39)	Q129L	possibly damaging	Het
Prrt4	T	C	6: 29,170,163 (GRCm39)	Y763C	probably damaging	Het
Psma7	T	C	2: 179,681,304 (GRCm39)		probably benign	Het
Serpinb6b	G	C	13: 33,156,246 (GRCm39)	C112S	probably damaging	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Slc35f5	G	A	1: 125,500,211 (GRCm39)	A242T	possibly damaging	Het
Speer4b	T	C	5: 27,706,311 (GRCm39)	R19G	probably benign	Het
Trank1	A	G	9: 111,196,103 (GRCm39)	I1376V	probably benign	Het
Trbv12-2	A	G	6: 41,095,831 (GRCm39)	N12D	probably benign	Het
Uba7	T	C	9: 107,854,001 (GRCm39)		probably null	Het
Upf3a	A	G	8: 13,846,591 (GRCm39)	R324G	probably benign	Het
Usp46	T	G	5: 74,192,928 (GRCm39)		probably benign	Het
Vmn2r14	T	G	5: 109,364,277 (GRCm39)		probably null	Het
Wbp2	G	A	11: 115,971,373 (GRCm39)		probably benign	Het
Wdpcp	T	A	11: 21,645,269 (GRCm39)	N232K	probably damaging	Het
Wdpcp	T	A	11: 21,645,271 (GRCm39)	M233K	probably benign	Het
Zfp157	A	G	5: 138,445,803 (GRCm39)	I53V	probably damaging	Het

Other mutations in Gm6871

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Gm6871	APN	7	41,195,845 (GRCm39)	missense	possibly damaging	0.67
R1005_Gm6871_627	UTSW	7	41,195,682 (GRCm39)	missense	probably damaging	1.00
R0419:Gm6871	UTSW	7	41,222,869 (GRCm39)	missense	probably benign	0.00
R1005:Gm6871	UTSW	7	41,195,682 (GRCm39)	missense	probably damaging	1.00
R1544:Gm6871	UTSW	7	41,195,514 (GRCm39)	splice site	probably null
R1553:Gm6871	UTSW	7	41,195,822 (GRCm39)	missense	probably benign	0.00
R1674:Gm6871	UTSW	7	41,223,059 (GRCm39)	missense	possibly damaging	0.46
R1710:Gm6871	UTSW	7	41,195,901 (GRCm39)	missense	probably damaging	1.00
R1743:Gm6871	UTSW	7	41,195,876 (GRCm39)	missense	probably damaging	0.98
R1777:Gm6871	UTSW	7	41,195,143 (GRCm39)	missense	probably benign	0.23
R1844:Gm6871	UTSW	7	41,222,892 (GRCm39)	missense	probably benign	0.03
R2508:Gm6871	UTSW	7	41,197,414 (GRCm39)	missense	probably benign	0.11
R2966:Gm6871	UTSW	7	41,222,864 (GRCm39)	missense	probably benign	0.07
R3155:Gm6871	UTSW	7	41,223,079 (GRCm39)	missense	probably benign	0.03
R3156:Gm6871	UTSW	7	41,223,079 (GRCm39)	missense	probably benign	0.03
R3967:Gm6871	UTSW	7	41,196,148 (GRCm39)	missense	probably damaging	0.99
R4156:Gm6871	UTSW	7	41,195,510 (GRCm39)	missense	probably damaging	0.96
R4238:Gm6871	UTSW	7	41,195,204 (GRCm39)	missense	probably damaging	1.00
R4240:Gm6871	UTSW	7	41,195,204 (GRCm39)	missense	probably damaging	1.00
R4731:Gm6871	UTSW	7	41,196,173 (GRCm39)	missense	probably benign	0.01
R4732:Gm6871	UTSW	7	41,196,173 (GRCm39)	missense	probably benign	0.01
R4733:Gm6871	UTSW	7	41,196,173 (GRCm39)	missense	probably benign	0.01
R4910:Gm6871	UTSW	7	41,223,016 (GRCm39)	missense	probably benign	0.03
R5269:Gm6871	UTSW	7	41,197,525 (GRCm39)	missense	probably damaging	0.99
R5371:Gm6871	UTSW	7	41,222,992 (GRCm39)	missense	probably benign	0.07
R6222:Gm6871	UTSW	7	41,196,006 (GRCm39)	missense	probably damaging	0.99
R6975:Gm6871	UTSW	7	41,196,202 (GRCm39)	synonymous	silent
R8006:Gm6871	UTSW	7	41,195,106 (GRCm39)	missense	probably benign	0.10
R8150:Gm6871	UTSW	7	41,197,185 (GRCm39)	missense
R9019:Gm6871	UTSW	7	41,195,262 (GRCm39)	missense	probably damaging	1.00
Z1176:Gm6871	UTSW	7	41,195,837 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGATGCGCAAAAGCTTTACC -3'
(R):5'- GCCTTTGCACAACACAATAGTCTC -3'

Sequencing Primer
(F):5'- GATGCGCAAAAGCTTTACCACATTTC -3'
(R):5'- TGCACAACACAATAGTCTCCAAATAC -3'

Posted On

2015-06-12